ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766439
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1791412
ClinVar RCV Id:
RCV002430679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Gly3665Asp
CA50386604
NM_001378454.1:c.10994G>A