ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825758285
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000598072
RCV000792953
RCV001535517
RCV003403397
ClinVar Variation:
500004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Pro264Leu
CA1705463
NM_001130981.2:c.791C>T