ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495736
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_055935.4:p.Tyr1098Cys
CA1713496
NM_015120.4:c.3293A>G