ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495649
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403945
ClinVar RCV Id:
RCV000469202
RCV001584125
RCV002451062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Gln120Arg
CA1712819
NM_015120.4:c.359A>G