ClinGen Allele Registry
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Canonical Allele Identifier:
PA658667364
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
459850
ClinVar RCV Id:
RCV000551773
RCV001172505
RCV001548165
RCV002358474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg4056Gln
CA1715470
NM_015120.4:c.12167G>A