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: PA2828658702

Gene: MLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242875

ClinVar RCV Id: RCV000491615

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363413.1:p.Gly127Val	CA412109375 NM_001376484.1:c.380G>T