ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828763475
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390302
ClinVar RCV Id:
RCV000418543
RCV000560896
RCV001821206
RCV002323649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Tyr1097Cys
CA1713496
NM_001378454.1:c.3290A>G