ClinGen Allele Registry
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Canonical Allele Identifier:
PA658667359
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449959
ClinVar RCV Id:
RCV000519349
RCV000765700
RCV003159669
RCV003387868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Gly4014Ser
CA1715407
NM_015120.4:c.12040G>A