ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495847
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424295
ClinVar RCV Id:
RCV000480373
RCV000546991
RCV002367657
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Pro2149Thr
CA1714063
NM_015120.4:c.6445C>A