Allele Registry

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.

Canonical Allele Identifier: PA107718

Gene: CACNA1H HGNC NCBI

Linked Data

ClinVar Variation Id: 2703

ClinVar RCV Id: RCV000002822 RCV001321101

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066921.2:p.Val831Met	CA214924 NM_021098.3:c.2491G>A