ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828765261
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2147961
ClinVar RCV Id:
RCV003068612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Pro2659Ser
CA50377791
NM_001378454.1:c.7975C>T