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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:
CA139634467
Gene: HMGCLL1
HGNC
NCBI
Linked Data
dbSNP Id:
rs201766416
gnomAD v2:
6-55473286-G-GA
gnomAD v3:
6-55608488-G-GA
gnomAD v4:
6-55608488-G-GA
MyVariant Identifiers:
chr6:g.55473286_55473287insA (hg19)
chr6:g.55608488_55608489insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.55608496dup , CM000668.2:g.55608496dup
GRCh38
NC_000006.11:g.55473294dup , CM000668.1:g.55473294dup
GRCh37
NC_000006.10:g.55581253dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011514701.1:c.-279-66349dup
XP_011513003.1:n.-279-66349dup
Search 100 bp 5'
Search 100 bp 3'