ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495935
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426304
ClinVar RCV Id:
RCV000489619
RCV000526705
RCV002431428
RCV003323567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Pro2762Ala
CA1714439
NM_015120.4:c.8284C>G