ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766152
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373524
ClinVar RCV Id:
RCV000413690
RCV000544449
RCV001569636
RCV002379273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Glu3413Gly
CA1714949
NM_001378454.1:c.10238A>G