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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:
CA806209562
Gene: HAVCR2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1315879489
MyVariant Identifiers:
chr5:g.156537451del (hg19)
chr5:g.157110440del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.157110443del , CM000667.2:g.157110443del
GRCh38
NC_000005.9:g.156537454del , CM000667.1:g.156537454del
GRCh37
NC_000005.8:g.156470032del
NCBI36
NG_030444.1:g.3798del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000524219.2:c.-293-3478del
ENSP00000430328.2:n.-293-3478del
ENST00000696899.1:c.-264-1193del
ENSP00000512960.1:n.-264-1193del
ENST00000524219.1:c.-293-3478del
ENSP00000430328.1:n.-293-3478del
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