ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA143900
Gene: ASB10
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_543147.2:p.Val192Leu
NM_080871.4:c.574G>C
NM_080871.4:c.574G>T