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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA567490892
Gene: HCRTR2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1237966522
gnomAD v2:
6-55147959-CATT-C
gnomAD v3:
6-55283161-CATT-C
gnomAD v4:
6-55283161-CATT-C
MyVariant Identifiers:
chr6:g.55147960_55147962del (hg19)
chr6:g.55283162_55283164del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.55283164_55283166del , CM000668.2:g.55283164_55283166del
GRCh38
NC_000006.11:g.55147962_55147964del , CM000668.1:g.55147962_55147964del
GRCh37
NC_000006.10:g.55255921_55255923del
NCBI36
NG_012447.1:g.113892_113894del
NG_012447.2:g.181705_181707del
Transcript Alleles
HGVS
Amino-acid Change
XM_017010798.1:c.1331+714_1331+716del
XP_016866287.1:n.1331+714_1331+716del
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