ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111195
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007058
RCV000681612
ClinVar Variation:
6673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Val67Asp
CA253907
NM_003494.4:c.200_201delinsAT