ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573262099
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1378061
ClinVar RCV Id:
RCV001880956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.His3499Arg
CA1715014
NM_015120.4:c.10496A>G